Autosomal recessive intermediate Charcot-Marie-Tooth disease type A (AR-CMT A) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by slowly progressive muscle weakness and wasting (atrophy) of the low...

Autosomal recessive intermediate Charcot-Marie-Tooth disease type B (AR-CMTB) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by slowly progressive muscle weakness and wasting (atrophy) of the lowe...

Autosomal recessive intermediate Charcot-Marie-Tooth disease type C (AR-CMT2C) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by slowly progressive muscle weakness and wasting (atrophy) of the low...

Autosomal recessive intermediate Charcot-Marie-Tooth disease type D (AR-CMTD) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by slowly progressive muscle weakness and wasting (atrophy) of the lowe...

Autosomal recessive isolated optic atrophy (ARIO) is a rare genetic disorder that affects the optic nerve, causing vision loss. It is caused by mutations in the OPA1 gene, which is responsible for the production of a protein that helps maintain th...

Autosomal recessive Kenny-Caffey syndrome is a rare genetic disorder that affects the growth and development of bones. It is characterized by short stature, delayed bone age, and abnormalities of the bones in the hands and feet. Other features may...

Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (ARLNSP) is a rare, inherited neurological disorder that affects the development of the nervous system. It is characterized by severe muscle weakness, poor coordination, and se...

Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome (ARIS) is a rare genetic disorder characterized by a combination of neurological and ocular symptoms. It is caused by mutations in the SLC25A12 gene, which is re...

Jervell and Lange-Nielsen syndrome (JLNS) is a rare inherited disorder characterized by deafness present at birth (congenital) occurring in association with abnormalities affecting the electrical system of the heart. The severity of cardiac sympto...

Autosomal recessive lower motor neuron disease with childhood onset is a rare genetic disorder that affects the lower motor neurons in the brain and spinal cord. It is characterized by progressive muscle weakness and wasting, as well as difficulty...

Autosomal recessive malignant osteopetrosis is a rare genetic disorder that affects the bones. It is caused by mutations in the CLCN7 gene, which is responsible for the production of a protein that helps regulate the activity of certain cells in t...

Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency is a rare genetic disorder caused by mutations in the RORgamma gene. This gene is responsible for the production of a protein calle...

Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency is a rare genetic disorder caused by mutations in the JAK1 gene. This disorder affects the immune system, making it more susceptible to mycobacte...

Autosomal recessive multiple pterygium syndrome (ARMP) is a rare genetic disorder characterized by multiple pterygia (webbed skin folds) on the neck, arms, legs, and other parts of the body. It is caused by mutations in the PTPN11 gene, which is r...

Autosomal recessive myogenic arthrogryposis multiplex congenita (AR-MMC) is a rare genetic disorder characterized by multiple joint contractures (stiffness) and muscle weakness that is present at birth. It is caused by mutations in genes that are ...

Autosomal recessive nail dysplasia is a rare genetic disorder that affects the nails. It is characterized by the abnormal growth and development of the nails, which can be thickened, discolored, and brittle. It is caused by mutations in the genes ...

Autosomal recessive omodysplasia is a rare genetic disorder that affects the development of bones and joints. It is caused by mutations in the gene that codes for the protein filamin B. Symptoms of this disorder include short stature, joint stiffn...